Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000045713 Individual ID 00059207 Associated disease KTZS Phenotype details seizure onset: 7 month; Neurological findings: infantile hypotonia, later ataxic dystonic gait, Horner syndrome; Intellectual disability, severe (HP:0010864); MRI brain normal; teeth smooth surface, worn secondary premolars/molars, spaced wide, small, cylindric, yellow-brown Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Diagnosis - Age/Onset 00y07m Phenotype/Onset - Age/Examination - Protein - Owner name Elisabeth Maurer Database submission license No license selected Created by Elisabeth Maurer Date created 2016-03-03 08:44:48 +01:00 (CET) Date last edited 2020-11-27 17:43:21 +01:00 (CET)

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